Functional Characterization of a Novel Frameshift Mutation in the C-terminus of the Nav1.5 Channel Underlying a Brugada Syndrome with Variable Expression in a Spanish Family

INTRODUCTION: We functionally analyzed a frameshift mutation in the SCN5A gene encoding cardiac Na(+) channels (Nav1.5) found in a proband with repeated episodes of ventricular fibrillation who presented bradycardia and paroxysmal atrial fibrillation. Seven relatives also carry the mutation and show...

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Detalles Bibliográficos
Autores principales: Dolz-Gaitón, Pablo, Núñez, Mercedes, Núñez, Lucía, Barana, Adriana, Amorós, Irene, Matamoros, Marcos, Pérez-Hernández, Marta, González de la Fuente, Marta, Álvarez-López, Miguel, Macías-Ruiz, Rosa, Tercedor-Sánchez, Luis, Jiménez-Jáimez, Juan, Delpón, Eva, Caballero, Ricardo, Tamargo, Juan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3868464/
https://www.ncbi.nlm.nih.gov/pubmed/24363796
http://dx.doi.org/10.1371/journal.pone.0081493

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